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The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.

作者信息

Sahin Bedia, Burton Erik, Kuybu Okkes, Sahin Yavuz, Brinkley John

机构信息

Department of Ophthalmology, Karaman State Hospital, Karaman, Turkey.

Department of Neurology, LSU Health Shreveport, Shreveport, LA, USA.

出版信息

Indian J Ophthalmol. 2022 Jul;70(7):2693-2694. doi: 10.4103/ijo.IJO_64_22.

DOI:10.4103/ijo.IJO_64_22
PMID:35791209
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9426147/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6085/9426147/f8a03998f0b4/IJO-70-2693-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6085/9426147/f8a03998f0b4/IJO-70-2693-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6085/9426147/f8a03998f0b4/IJO-70-2693-g001.jpg

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The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.采用全外显子组测序方法对一名患有脉络膜视网膜炎的患者进行遗传咨询。
Indian J Ophthalmol. 2022 Jul;70(7):2693-2694. doi: 10.4103/ijo.IJO_64_22.
2
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.全外显子组测序揭示了一个最初被诊断为色素性视网膜炎的脉络膜骨瘤家族中的一种新的CHM基因突变。
BMC Ophthalmol. 2015 Jul 28;15:85. doi: 10.1186/s12886-015-0081-4.
3
Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.对一个家族的全外显子组测序发现了 CHM 基因中的一个新变异，c.22delG p.(Glu8Serfs*4)，该变异与脉络膜视网膜变性共分离。
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A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.CHM 基因突变导致脉络膜黑色素瘤合并急性闭角型青光眼。
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Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.外显子组测序揭示了六个最初被诊断为色素性视网膜炎的非典型脉络膜视网膜炎患者家系中的CHM突变。
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本文引用的文献

1
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.两名患有视网膜色素变性的韩国患者中CHM基因致病变异的鉴定。
Ann Lab Med. 2017 Sep;37(5):438-442. doi: 10.3343/alm.2017.37.5.438.
2
Novel CHM mutations identified in Chinese families with Choroideremia.在中国脉络膜骨瘤病家族中鉴定出的新型CHM突变。
Sci Rep. 2016 Oct 14;6:35360. doi: 10.1038/srep35360.
3
Clinical and Genetic Features of Choroideremia in Childhood.儿童型脉络膜视网膜炎的临床和遗传学特征。
Ophthalmology. 2016 Oct;123(10):2158-65. doi: 10.1016/j.ophtha.2016.06.051. Epub 2016 Aug 6.
4
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.外显子组测序揭示了六个最初被诊断为色素性视网膜炎的非典型脉络膜视网膜炎患者家系中的CHM突变。
Int J Mol Med. 2014 Aug;34(2):573-7. doi: 10.3892/ijmm.2014.1797. Epub 2014 Jun 6.
5
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.两个视网膜色素变性家族中CHM基因的分子分析及X染色体失活模式测定
Am J Med Genet A. 2009 Oct;149A(10):2134-40. doi: 10.1002/ajmg.a.32727.
6
A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.在一个日本家族中发现的脉络膜营养不良基因的一种新型突变（967-970+2）delAAAGGT及相关临床发现。
Jpn J Ophthalmol. 2008 Jul-Aug;52(4):289-297. doi: 10.1007/s10384-008-0564-4. Epub 2008 Sep 5.
7
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.Rab 香叶基香叶基转移酶 A 组分的 cDNA 克隆及其作为 Rab 护送蛋白作用的证明。
Cell. 1993 Jun 18;73(6):1091-9. doi: 10.1016/0092-8674(93)90639-8.
8
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.脉络膜视网膜病变中的视网膜变性：拉布 geranylgeranyl 转移酶缺乏症。
Science. 1993 Jan 15;259(5093):377-81. doi: 10.1126/science.8380507.
9
Choroideremia. Study of a family and literature review.
Arch Ophthalmol. 1966 Oct;76(4):563-74. doi: 10.1001/archopht.1966.03850010565015.